Congenital adrenal hyperplasia: Diagnosis, evaluation, and management

• CAH represents a family of disorders of the cortisol synthesis pathway in which more than 90% of cases are caused by 21OHD. The hallmark of 21OHD is excessive androgen production that varies in degree among its different subtypes. • The severe classic form of CAH is the most common cause of ambiguous genitalia in a genetically female fetus. • Experimental treatment of mothers with dexamethasone in early gestation results in significantly less virilization in female fetuses affected with classic CAH. • Newborn screening has had an important impact on identifying the salt-wasting subtype in male infants and preventing adrenal crisis. • Lifelong treatment with steroids is required for most patients. • The consequences of the disease and complications of the treatment remain a challenge and require the involvement of multiple subspecialties. • As in many other diseases, gene therapy offers real hope for a cure for CAH.